Incidental Mutation 'R6814:Slc24a3'
| ID |
533989 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc24a3
|
| Ensembl Gene |
ENSMUSG00000063873 |
| Gene Name |
solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 |
| Synonyms |
NCKX3 |
| MMRRC Submission |
044926-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.174)
|
| Stock # |
R6814 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
145009695-145484086 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 145458630 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 537
(Q537*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105634
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081121]
[ENSMUST00000110007]
|
| AlphaFold |
Q99PD7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000081121
AA Change: Q487*
|
| SMART Domains |
Protein: ENSMUSP00000079897
Gene: ENSMUSG00000063873
AA Change: Q487*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Na_Ca_ex
|
72 |
204 |
8.6e-33 |
PFAM |
|
coiled coil region
|
353 |
382 |
N/A |
INTRINSIC |
|
Pfam:Na_Ca_ex
|
437 |
577 |
2.1e-26 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000110007
AA Change: Q537*
|
| SMART Domains |
Protein: ENSMUSP00000105634
Gene: ENSMUSG00000063873
AA Change: Q537*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
19 |
N/A |
INTRINSIC |
|
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
|
Pfam:Na_Ca_ex
|
112 |
255 |
2.6e-32 |
PFAM |
|
coiled coil region
|
403 |
432 |
N/A |
INTRINSIC |
|
Pfam:Na_Ca_ex
|
477 |
629 |
6.1e-30 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.6%
|
| Validation Efficiency |
100% (48/48) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Plasma membrane sodium/calcium exchangers are an important component of intracellular calcium homeostasis and electrical conduction. Potassium-dependent sodium/calcium exchangers such as SLC24A3 are believed to transport 1 intracellular calcium and 1 potassium ion in exchange for 4 extracellular sodium ions (Kraev et al., 2001 [PubMed 11294880]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4 |
G |
A |
4: 144,349,750 (GRCm39) |
V336I |
probably benign |
Het |
| Aadacl4fm4 |
A |
T |
4: 144,397,216 (GRCm39) |
L172* |
probably null |
Het |
| Abca7 |
G |
A |
10: 79,838,833 (GRCm39) |
V669I |
probably damaging |
Het |
| Abcg3 |
T |
C |
5: 105,083,860 (GRCm39) |
T637A |
probably benign |
Het |
| Afap1l1 |
A |
T |
18: 61,866,812 (GRCm39) |
V749E |
probably benign |
Het |
| Arfgef3 |
A |
G |
10: 18,470,767 (GRCm39) |
L1666S |
probably damaging |
Het |
| Atp2b1 |
A |
G |
10: 98,858,877 (GRCm39) |
N284D |
possibly damaging |
Het |
| Ccdc196 |
T |
A |
12: 78,244,141 (GRCm39) |
D31E |
probably damaging |
Het |
| Ccdc24 |
T |
C |
4: 117,727,123 (GRCm39) |
T196A |
probably benign |
Het |
| Cdc20b |
G |
A |
13: 113,220,509 (GRCm39) |
G463S |
probably damaging |
Het |
| Ceacam5 |
A |
T |
7: 17,486,212 (GRCm39) |
R570* |
probably null |
Het |
| Cit |
G |
A |
5: 116,023,022 (GRCm39) |
C283Y |
probably damaging |
Het |
| Cpa5 |
A |
T |
6: 30,614,053 (GRCm39) |
Q65L |
probably benign |
Het |
| Cspg4 |
A |
G |
9: 56,797,624 (GRCm39) |
I1363V |
possibly damaging |
Het |
| D2hgdh |
C |
A |
1: 93,763,025 (GRCm39) |
T270N |
possibly damaging |
Het |
| Dnah8 |
G |
T |
17: 30,981,653 (GRCm39) |
L3058F |
probably damaging |
Het |
| Dnajb8 |
A |
G |
6: 88,200,022 (GRCm39) |
N186S |
probably damaging |
Het |
| Dock4 |
T |
C |
12: 40,862,325 (GRCm39) |
|
probably null |
Het |
| Ear6 |
A |
G |
14: 52,091,885 (GRCm39) |
Y144C |
probably damaging |
Het |
| Fam53a |
T |
C |
5: 33,767,829 (GRCm39) |
Y27C |
probably benign |
Het |
| Fgf2 |
A |
G |
3: 37,458,860 (GRCm39) |
K85E |
probably damaging |
Het |
| Fubp1 |
A |
T |
3: 151,931,783 (GRCm39) |
Q37L |
probably benign |
Het |
| Gabra2 |
G |
T |
5: 71,251,882 (GRCm39) |
P22T |
probably damaging |
Het |
| Gm10401 |
T |
C |
5: 115,236,245 (GRCm39) |
|
probably benign |
Het |
| Iglv3 |
A |
G |
16: 19,060,034 (GRCm39) |
I98T |
probably damaging |
Het |
| Nlrp2 |
C |
T |
7: 5,311,709 (GRCm39) |
R922H |
probably benign |
Het |
| Nr1h4 |
T |
C |
10: 89,290,607 (GRCm39) |
T474A |
probably damaging |
Het |
| Pcdhb20 |
A |
C |
18: 37,639,218 (GRCm39) |
E581D |
probably benign |
Het |
| Pidd1 |
G |
T |
7: 141,019,331 (GRCm39) |
T750K |
probably benign |
Het |
| Pigq |
A |
T |
17: 26,150,630 (GRCm39) |
|
probably benign |
Het |
| Rab44 |
A |
G |
17: 29,358,784 (GRCm39) |
E324G |
probably benign |
Het |
| Slc34a1 |
T |
C |
13: 24,006,372 (GRCm39) |
I466T |
possibly damaging |
Het |
| Slc7a10 |
T |
C |
7: 34,894,689 (GRCm39) |
V116A |
probably damaging |
Het |
| Taf15 |
T |
A |
11: 83,389,915 (GRCm39) |
N228K |
probably damaging |
Het |
| Tbx19 |
A |
T |
1: 164,975,202 (GRCm39) |
|
probably null |
Het |
| Tgoln1 |
A |
G |
6: 72,592,538 (GRCm39) |
V314A |
possibly damaging |
Het |
| Them4 |
A |
T |
3: 94,231,678 (GRCm39) |
I172F |
probably damaging |
Het |
| Tmc7 |
T |
A |
7: 118,146,846 (GRCm39) |
Y477F |
probably benign |
Het |
| Tmem132a |
A |
G |
19: 10,840,669 (GRCm39) |
L421P |
probably damaging |
Het |
| Vamp5 |
G |
A |
6: 72,357,424 (GRCm39) |
|
probably benign |
Het |
| Vmn2r11 |
T |
G |
5: 109,194,976 (GRCm39) |
R783S |
possibly damaging |
Het |
| Zfp180 |
G |
T |
7: 23,805,306 (GRCm39) |
C575F |
probably damaging |
Het |
| Zfp189 |
A |
T |
4: 49,529,026 (GRCm39) |
N43I |
probably damaging |
Het |
| Zfp36l2 |
A |
G |
17: 84,493,521 (GRCm39) |
|
probably benign |
Het |
| Zfp592 |
T |
C |
7: 80,673,576 (GRCm39) |
V180A |
probably benign |
Het |
| Zfp605 |
C |
T |
5: 110,275,311 (GRCm39) |
P143L |
probably benign |
Het |
| Zfp646 |
T |
C |
7: 127,482,505 (GRCm39) |
S1561P |
probably benign |
Het |
|
| Other mutations in Slc24a3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01295:Slc24a3
|
APN |
2 |
145,458,634 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01327:Slc24a3
|
APN |
2 |
145,444,478 (GRCm39) |
missense |
probably benign |
|
|
IGL01413:Slc24a3
|
APN |
2 |
145,482,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01418:Slc24a3
|
APN |
2 |
145,482,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01468:Slc24a3
|
APN |
2 |
145,455,500 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL01629:Slc24a3
|
APN |
2 |
145,482,130 (GRCm39) |
splice site |
probably benign |
|
|
IGL01973:Slc24a3
|
APN |
2 |
145,086,947 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02021:Slc24a3
|
APN |
2 |
145,360,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02378:Slc24a3
|
APN |
2 |
145,360,322 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R0242:Slc24a3
|
UTSW |
2 |
145,448,584 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0242:Slc24a3
|
UTSW |
2 |
145,448,584 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0685:Slc24a3
|
UTSW |
2 |
145,448,715 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0827:Slc24a3
|
UTSW |
2 |
145,360,412 (GRCm39) |
splice site |
probably benign |
|
|
R1669:Slc24a3
|
UTSW |
2 |
145,455,512 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2698:Slc24a3
|
UTSW |
2 |
145,455,487 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3796:Slc24a3
|
UTSW |
2 |
145,458,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4073:Slc24a3
|
UTSW |
2 |
145,455,636 (GRCm39) |
intron |
probably benign |
|
|
R4386:Slc24a3
|
UTSW |
2 |
145,448,746 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5125:Slc24a3
|
UTSW |
2 |
145,360,767 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5169:Slc24a3
|
UTSW |
2 |
145,482,184 (GRCm39) |
missense |
probably benign |
0.18 |
|
R5248:Slc24a3
|
UTSW |
2 |
145,446,437 (GRCm39) |
missense |
probably benign |
0.40 |
|
R5394:Slc24a3
|
UTSW |
2 |
145,455,494 (GRCm39) |
missense |
probably benign |
0.42 |
|
R5549:Slc24a3
|
UTSW |
2 |
145,448,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6476:Slc24a3
|
UTSW |
2 |
145,448,750 (GRCm39) |
missense |
probably benign |
|
|
R6777:Slc24a3
|
UTSW |
2 |
145,482,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7163:Slc24a3
|
UTSW |
2 |
145,086,911 (GRCm39) |
missense |
probably benign |
|
|
R7446:Slc24a3
|
UTSW |
2 |
145,422,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7525:Slc24a3
|
UTSW |
2 |
145,455,450 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9573:Slc24a3
|
UTSW |
2 |
145,455,548 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9732:Slc24a3
|
UTSW |
2 |
145,458,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCCCAAATTAAAGACTTTTCAGC -3'
(R):5'- GGGCAAGCATCTGTACCTTAC -3'
Sequencing Primer
(F):5'- GACTTTTCAGCATCTTGATCAGAGG -3'
(R):5'- ACAAGGAGATACTTTCTGCCTC -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation